Variant report

Variant	rs911556
Chromosome Location	chr14:103955495-103955496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr14:103955382-103955510	SH-SY5Y	brain:	n/a	n/a
2	CEBPB	chr14:103955334-103955668	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
MARK3	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10149270	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10151139	0.90[YRI][hapmap];0.94[AFR][1000 genomes]
rs11621406	0.94[AFR][1000 genomes]
rs11625988	0.90[AFR][1000 genomes]
rs11849549	1.00[AMR][1000 genomes]
rs1951393	0.83[YRI][hapmap];0.94[AFR][1000 genomes]
rs2065014	0.94[AFR][1000 genomes]
rs2145858	0.92[AFR][1000 genomes]
rs2180992	0.83[AFR][1000 genomes]
rs2403175	0.90[AFR][1000 genomes]
rs2403181	0.90[AFR][1000 genomes]
rs2756123	0.85[AFR][1000 genomes]
rs2756125	0.87[AFR][1000 genomes]
rs2756130	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2756131	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2756133	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2756137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2765045	0.85[AFR][1000 genomes]
rs2765047	0.87[AFR][1000 genomes]
rs2765048	0.87[AFR][1000 genomes]
rs2765050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2765053	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4900576	0.90[AFR][1000 genomes]
rs4906326	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs4906328	0.83[YRI][hapmap];0.94[AFR][1000 genomes]
rs62007720	0.83[AFR][1000 genomes]
rs6575987	0.82[AFR][1000 genomes]
rs6575989	0.90[AFR][1000 genomes]
rs6575990	0.90[AFR][1000 genomes]
rs6575993	0.94[AFR][1000 genomes]
rs7146717	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149291	1.00[YRI][hapmap]
rs7152150	0.82[AFR][1000 genomes]
rs7153380	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7156000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003497	0.90[AFR][1000 genomes]
rs8004123	1.00[AMR][1000 genomes]
rs8014010	0.92[AFR][1000 genomes]
rs911550	1.00[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
4	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
6	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
6	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:103939200-103966200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:103939400-103956000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:103942800-103956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:103942800-103957200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:103942800-103966400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:103943200-103969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:103943400-103958200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:103944200-103955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:103944400-103957400	Weak transcription	Colonic Mucosa	Colon
16	chr14:103944400-103962200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:103945400-103962800	Strong transcription	Thymus	Thymus
18	chr14:103945600-103957400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:103946400-103964400	Strong transcription	Fetal Thymus	thymus
20	chr14:103946800-103957200	Weak transcription	Pancreas	Pancrea
21	chr14:103946800-103963800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:103947200-103963800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:103947400-103955800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:103947600-103955800	Weak transcription	Ovary	ovary
25	chr14:103947600-103957200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:103947600-103966600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:103947600-103967400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:103947600-103972800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr14:103947800-103955800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:103947800-103966000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:103948000-103957200	Weak transcription	K562	blood
33	chr14:103948600-103961000	Weak transcription	A549	lung
34	chr14:103949000-103958000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr14:103949400-103955600	Weak transcription	Spleen	Spleen
36	chr14:103949800-103955600	Weak transcription	HepG2	liver
37	chr14:103950400-103957200	Weak transcription	Brain Substantia Nigra	brain
38	chr14:103950400-103957200	Weak transcription	HUVEC	blood vessel
39	chr14:103950400-103961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:103950400-103962200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:103950400-103978800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:103950600-103966600	Strong transcription	Fetal Stomach	stomach
43	chr14:103950600-103979000	Strong transcription	Fetal Intestine Small	intestine
44	chr14:103951000-103955600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:103951200-103966000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:103951600-103960000	Strong transcription	NHEK	skin
47	chr14:103951600-103972600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:103951600-103972800	Strong transcription	Dnd41	blood
49	chr14:103951600-103976600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:103951800-103956400	Strong transcription	Primary B cells from cord blood	blood

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